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Journal Abstract Search

355 related items for PubMed ID: 31209962

  • 1. Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
    Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E.
    Hum Mutat; 2019 Sep; 40(9):1346-1363. PubMed ID: 31209962
    [Abstract] [Full Text] [Related]

  • 2. Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.
    Trakadis Y, Accogli A, Qi B, Bloom D, Joober R, Levy E, Tabbane K.
    Neurogenetics; 2021 Oct; 22(4):313-322. PubMed ID: 34363551
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  • 3. Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.
    Stefanski A, Calle-López Y, Leu C, Pérez-Palma E, Pestana-Knight E, Lal D.
    Epilepsia; 2021 Jan; 62(1):143-151. PubMed ID: 33200402
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  • 6. Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
    Kalsner L, Twachtman-Bassett J, Tokarski K, Stanley C, Dumont-Mathieu T, Cotney J, Chamberlain S.
    Mol Genet Genomic Med; 2018 Mar; 6(2):171-185. PubMed ID: 29271092
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  • 8. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
    Siu MT, Butcher DT, Turinsky AL, Cytrynbaum C, Stavropoulos DJ, Walker S, Caluseriu O, Carter M, Lou Y, Nicolson R, Georgiades S, Szatmari P, Anagnostou E, Scherer SW, Choufani S, Brudno M, Weksberg R.
    Clin Epigenetics; 2019 Jul 16; 11(1):103. PubMed ID: 31311581
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  • 10. Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.
    Brett M, McPherson J, Zang ZJ, Lai A, Tan ES, Ng I, Ong LC, Cham B, Tan P, Rozen S, Tan EC.
    PLoS One; 2014 Jul 16; 9(4):e93409. PubMed ID: 24690944
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  • 12. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
    Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T.
    Am J Hum Genet; 2016 Mar 03; 98(3):541-552. PubMed ID: 26942287
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  • 14. Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
    Shchubelka K, Turova L, Wolfsberger W, Kalanquin K, Williston K, Kurutsa O, Makovetska A, Hasynets Y, Mirutenko V, Vakerych M, Oleksyk TK.
    J Neurodev Disord; 2024 Mar 27; 16(1):13. PubMed ID: 38539105
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  • 15. De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability.
    Chen WX, Liu B, Zhou L, Xiong X, Fu J, Huang ZF, Tan T, Tang M, Wang J, Tang YP.
    Hum Genomics; 2022 Nov 01; 16(1):52. PubMed ID: 36320054
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  • 18. Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.
    Carraro M, Monzon AM, Chiricosta L, Reggiani F, Aspromonte MC, Bellini M, Pagel K, Jiang Y, Radivojac P, Kundu K, Pal LR, Yin Y, Limongelli I, Andreoletti G, Moult J, Wilson SJ, Katsonis P, Lichtarge O, Chen J, Wang Y, Hu Z, Brenner SE, Ferrari C, Murgia A, Tosatto SCE, Leonardi E.
    Hum Mutat; 2019 Sep 01; 40(9):1330-1345. PubMed ID: 31144778
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  • 19. The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.
    Wang J, Wang Y, Wang L, Chen WY, Sheng M.
    BMC Med Genomics; 2020 May 19; 13(1):70. PubMed ID: 32429945
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  • 20. A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A.
    Bhattacharya A, Parlanti P, Cavallo L, Farrow E, Spivey T, Renieri A, Mari F, Manzini MC.
    Hum Mol Genet; 2024 Jul 06; 33(14):1229-1240. PubMed ID: 38652285
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